Article
Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group.
Atherosclerosis - 1 Jan 1998
Sun X M, Patel D D, Knight B L, Soutar A K
Abstract excerpt
The relationship between molecular defect and clinical phenotype has been examined in 42 patients with heterozygous familial hypercholesterolaemia (FH) and premature coronary heart disease. The defined defects included mutations in the low density lipoprotein (LDL)-receptor gene (23/42) or the ap...
Topics
- Adult
- Anticholesteremic Agents
- Cholestyramine Resin
- Colestipol
- Female
- Genotype
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Hypolipidemic Agents
- Male
- Middle Aged
- Phenotype
- Receptors, LDL
- Simvastatin